Raising Awareness - Kabuki Syndrome

Today we showed our support for raising awareness for Kabuki Syndrome :

A brief glance at Kabuki Syndrome :

Kabuki Syndrome is a rare, genetic disorder which occurs somewhere between 1 in every 10,000 to 32,000 births.  In 1968 Dr Yoshikazu Kuroki and colleagues examined a boy in Fukuoka in the southern part of Japan, with a unique set of malformations that did not fit into known syndromes. Ten years later another child with similar characteristics was examined in Kanagawa, followed with three others in the ensuing two years.  At the same time in 1967 Dr Norio Niikawa and colleagues discovered a female infant with an unusual set of characteristics that, again, did not fit into known syndromes. They found four other individuals from Hokkaido, an island north of Japan. In 1981 the combined findings of these individuals were presented as a new malformation and the name "Kabuki Make-Up" was selected because of the facial resemblance to the makeup of actors in Kabuki - traditional Japanese theatre. The arched eyebrows, thick eyelashes, eversion of the lateral lower lid and long palpebral fissures all contributed to this resemblance, especially in children of Asian descent. It has also been referred to as Niikawa-Kuroki Syndrome but is now more commonly known as Kabuki Syndrome.

The health issues of Kabuki Syndrome are variable. Many different health issues have been observed among children with Kabuki Syndrome, however, an individual child may have only a sub-set of those issues. Those born with heart malformations, cleft lip/palate or other obviously physical anomalies will be more likely to receive an early diagnosis, while for others this process may take longer.

MEET MICHAEL

Michael Arthur Smit was born four weeks premature on the 4th January 2006, weighing in at just 1.6kg's and with major problems.  Michael had two massive holes in his tiny heart and was in high-risk heart failure. The doctors did everything they could to keep him alive for the next six weeks, at which time Michael underwent open-heart surgery, weighing in at a still-fragile 2.2kg's. After the operation though life seemed to return to normal and other than being very tiny, Michael was doing very well.

However, after Michael's first birthday everything just seemed to start going wrong - he spent most of his time in and out of hospitals, sometimes for weeks at a time, as Michael contracted virus after virus. At this point Michael required regular physiotherapy, medication and feeds. The doctors eventually decided to give Michael a gastrostomy tube in his tummy in the hope that the extra feeds would help him pick up weight. At fifteen months old Michael underwent another surgery for a Nissen Fundoplication to help manage his severe reflux and just one month later yet another surgery to stretch his oesophagus as the Nissen had been done too tight.

When Michael was eighteen months old a geneticist in Holland diagnosed him with Kabuki Syndrome. It came as a big shock to parents, Lizel and Barnard, but did explain why Michael was suffering with so many medical issues. Michael also suffers with common variable immune deficiency which results in his immune system not functioning effectively. To help remedy this, Michael underwent another surgery to insert a Portocath and received his first Polygam (immune treatment)at eighteen months and every three weeks thereafter. Michael now receives Octogam on a four-week cycle.

After extensive physio and occupational therapy Michael learnt to sit by twelve months, crawl by the age of two and walk by the age of three. Side effects of the Kabuki Syndrome include speech impairment, mild cerebral palsy, eating difficulties, poor muscle tone, common variable immune deficiency and cognitive challenges.

Michael will be ten years old soon. He attends the Alta du Toit School for mentally handicapped children, which he loves. Michael loves his friends and laughs all the time. He still needs extensive physiotherapy, occupational therapy and speech therapy now and in the future, to help him cope with all the specific problems.

"Although Michael's life is full of challenges, we take each day as it comes and are very grateful to have him with us. He is funny, full of life and surprises us each day. He loves his food and is very strong-willed."

Sam doing his green bit for raising awareness

 

What would any Awareness Day be without this precious little face

Sienna Kuhnel xxx

20 October is Down Syndrome Awareness Day (SA)

Down syndrome (DS or DNS) or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.^[1] It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability.^[2] Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing. Regular screening for health problems common in Down syndrome is recommended throughout the person's life. Down syndrome is one of the most common chromosome abnormalities in humans,^[3] occurring in about one per 1000 babies born each year.^[2] In 2013 it resulted in 36,000 deaths down from 43,000 deaths in 1990.^[11] It is named after John Langdon Down, the British doctor who fully described the syndrome in 1866.^[12] Some aspects of the condition were described earlier by Jean-Étienne Dominique Esquirol in 1838 and Édouard Séguin in 1844.^[13] The genetic cause of Down syndrome—an extra copy of chromosome 21—was identified by French researchers in 1959.

SIGNS AND SYMPTOMS
Those with Down Syndrome nearly always have physical and intellectual disabilities. They also typically  have poor immune function and generally reach developmental milestones at a later stage. An increased risk of a number of other health problems is usually also present, including congenital heart disease, epilepsy, leukemia, thyroid diseases and mental disorders, among others.

MEET ROSHAN

Roshan was born on the 26^th of May at gestational age of 37.5 weeks, weighing only 2.720kg.

After Roshan was born, he was assessed by a paediatrician and diagnosed with Down Syndrome, confirmed with genetic testing within the following week. At Roshan’s follow up consultation, a heart murmur was detected and we were referred to a Paediatric Cardiologist, who added an additional diagnosis of VSD (a hole in the lower chamber of the heart). To date, no medical intervention has been necessary to treat the VSD and we pray it will remain so.  

As Hypertonia (low muscle tone) is associated with Down Syndrome, Roshan required Physiotherapy and still attends Speech and Occupational therapy at present. He is non-verbal and we are in the process of having him assessed for Speech Apraxia to ascertain whether this might be contributing to Roshan’s not yet communicating verbally, despite his age. Roshan also has sensory issues and doesn’t always adjust to unfamiliar surroundings and people. He also suffers from GDD (Global Developmental Delay).

At seven months old, Roshan became very ill and was rushed to hospital.  After a series of tests and a biopsy it was discovered that he has Hirschsprungs disease, which required a colostomy until the infection subsided in his colon. At 10 months old Roshan had a pull through (follow up) surgery as well as an Orchidopexy.  In most cases, life resumes as normal after these surgeries, but because of Roshan having Down Syndrome as well, this is not the case – Roshan is dependent on the chronic use of laxatives and will be in nappies for many years to come. Because of Roshan’s heart condition, the use of anaesthetic makes every surgery risky.

From the moment I held my precious little boy in my arms I knew he was very special, even before any diagnoses were made. Roshan has brought a new meaning to parenting for me. He is teaching me and all those around him that children with special needs just need to be embraced lovingly by society.

Today Roshan is 3 years old and keeps us busy and on our toes. He loves water, dancing and playing with blocks and balls.  As yet, Roshan does not attend a nursery school as we have not been able to find one which meets both Roshan's personal needs, as well as our financial restraints. We would do anything to keep him happy and healthy, and look forward to being able to sign Roshan up for swimming lessons and equestrian therapy (horseriding therapy) one day in the future." Samantha, Roshan's mommy
 

 

 

AND LITTLE ANJA

"Our journey with Down Syndrome began when Anja was already seven weeks old. As neither scans nor blood tests during my pregnancy indicated any reason to suspect Down Syndrome, the diagnosis was a huge shock! We met with a cardiologist the very next day...I never knew I had so many tears. And they kept coming! Most babies with Down Syndrome are born with heart defects (in addition to a variety of other possible medical issues). Anja had a hole of about 5mm between the arteries which did not require surgery. What relief that news brought, as well as the blessing that she did not suffer from any other serious medical issues.

 

Anja's daddy, Jacques, made peace with the diagnosis from the beginning, saying "Anja is my little girl!" I, however, had to come to terms with it. Anja was being re-born in my eyes, I had to dream new dreams for her...accept the fact that she was even more special and would need me/us much longer than a typical little girl would. Developmental challenges...intellectual challenges...a lot of new "things"...a brand new girl we didn't know yet. We decided to take one step at a time and contacted the Down Syndrome Association of the Western Cape to set up a meeting. Later on we typed up an email to all our family and friends telling them about Anja, that she is our little girl and will be raised in the same way as her brother and that we remain the same people. We also stated that any questions were welcome. We realised immediately that acceptance was going to be the biggest challenge. 

 

Now, more than a year later, we have discovered that we are so lucky to have Anja in our lives. With her ever-present smile, we've learnt about unconditional love and the need to slow down as everything takes longer to master. Sometimes it is hard to see that your little girl is "behind" her friends, sometimes a tear finds its way down my cheek but I wouldn't want it any other way.

The hole in Anja's heart shrunk to approximately 1mm and she started crawling at 16.5 months. We've made many new friends along the way too, learnt about early intervention, physiotherapy, occupational therapy, disabilities, inclusion, genetics and much much more. Some days have been really hard but in so many ways Anja is the best thing that could have come our way - she and her brother fill our hearts and lives!

 

In November 2014 I began my "21 Cookies of Hope" project in support of Anja and our hopes for her and to raise awareness."    Mariaan, Anja's mommy

 

 

 

Little Sienna showing support for her DFF Family xxx

 

Raising Awareness - World Cerebral Palsy Day 07.10.2015

Cerebral Palsy (pronounced seh-ree-brel pawl-zee) is a blanket term commonly referred to as “CP” and described by loss or impairment of motor function caused by brain injury or abnormal development of the brain that occurs while a child’s brain is still developing — before birth, during birth, or immediately after birth.  Cerebral palsy affects body movement, muscle control, muscle coordination, muscle tone, reflex, posture and balance. It can also impact fine motor skills, gross motor skills and oral motor functioning.

 

An individual with cerebral palsy will likely show signs of physical impairment. However, the type of movement dysfunction, the location and number of limbs involved, as well as the extent of impairment, will vary from one individual to another. It can affect arms, legs, and even the face; it can affect one limb, several, or all. Cerebral palsy affects muscles and a person’s ability to control them. Muscles can contract too much, too little, or all at the same time. Limbs can be stiff and forced into painful, awkward positions. Fluctuating muscle contractions can make limbs tremble, shake, or writhe. Balance, posture, and coordination can also be affected by cerebral palsy. Tasks such as walking, sitting, or tying shoes may be difficult for some, while others might have difficulty grasping objects. Other complications, such as intellectual impairment, seizures, and vision or hearing impairment also commonly accompany cerebral palsy.

Every case of cerebral palsy is unique to the individual!

One person may have total paralysis and require constant care, while another with partial paralysis might have slight movement tremors but require little assistance. This is due in part by the type of injury and the timing of the injury to the developing brain.

Cerebral Palsy is...

• non-life threatening
• incurable
• non-progressive
• permanent
• not contagious
• manageable
• chronic 

As the Daniel and Friends Fund has many CP Heroes in our family, we were out in full force raising awareness and showing support xxx

 

 

 

RAISING AWARENESS - August is SMA Awarenss Month

What is S.M.A. (Spinal Muscular Atrophy)

Spinal Muscular Atrophy (SMA) is an incurable autosomal recessive disease caused by a genetic defect in the SMN1 gene which codes SMN, a protein necessary for survival of motor neurons, and resulting in death of neuronal cells in the anterior horn of spinal cord and subsequent system-wide muscle wasting (atrophy). Spinal muscular atrophy manifests in various degrees of severity which all have in common general muscle wasting and mobility impairment. Other body systems may be affected as well, particularly in early-onset forms. SMA is the most common genetic cause of infant death. The most severe form of SMA Type I is sometimes termed SMA type 0 (or severe infantile SMA) and is diagnosed in babies that are born so weak that are able to survive only a few weeks even with intensive respiratory support. SMA type 0 should not be confused with SMARD1 which may have very similar symptoms and course but has a different genetic cause than SMA. Development milestone attainment is commonly measured using a specially modified Hammersmith Functional Motor Scale Symptoms. The symptoms vary greatly depending on the SMA type involved, the stage of the disease and individual factors and may include:

• Areflexia, particularly in extremities
• Marked hypotonia in legs, arms, rib, chest, and bulbar (facial) muscles, limpness or a tendency to flop
• Difficulty achieving developmental milestones, difficulty sitting/standing/walking
• Adopting of a frog-leg position when sitting (hips abducted and knees flexed)
• Respiratory distress, weak cough/cry
• Bell-shaped torso (caused by using only abdominal muscles for respiration)
• Difficulty sucking or swallowing, poor feeding
• Fasciculations (twitching) of the tongue
• Arthrogryposis (multiple congenital contractures)

 

Meet Hanno Fourie 
 





Hanno was diagnosed with SMA I at six months old. He was born full-term by C-section following an unproblematic pregnancy. There were no prenatal or perinatal complications, his APGAR score was 9/10 and his birth weight was within average ranges. Motor, visual and social functions developed normally within the first six weeks of life, with appropriate reflex sucking, swallowing and rooting, eye-to-eye contact, advancing neck control and grasp reflexes. Muscular weakness became apparent by eight weeks and feeding difficulties arose. Following neurological examination and genetic testing, Hanno was diagnosed with SMA 1 at six months old with a poor prognosis. He spent several months in hospital with pneumonia shortly after the diagnosis and in October 2012 a decision was taken to ventilate him.  He returned home in the December of 2012 and has since been confined to a wheelchair, due to significant generalised muscle weakness and Hypotonia.  Hanno is fed primarily through a Gastrostomy Tube and is ventilator-dependent, requiring 24Hr care.  He has an older sister, Elle, who is six years old and both medically and cognitively well.  Despite profound muscle weakness, compromising both gross and fine motor skills, cognitive development in children with SMA does not necessarily differ significantly from that of their peers.  IQ scores have been found to be superior in some cases.  This said, the severity of the condition would be expected to determine the potential for cognitive development, for instance, progressive muscular atrophy compromising the coordination of fine motor skills for grasping and manipulating objects and affecting muscle groups used in speech production would interfere with gains in cognitive development in related domains and such effects would likely be cumulative over time.

Hanno and his mom, Chantelle

 

"At seven months old professors told us to go home and love Hanno for two months! He is the FIRST child with SMA1 on life-support at home.

 

Hanno is still terminally ill and not a human on Earth has a cure for SMA.

 

However...Hanno is developing at an excellent pace since his brain is 100% functional - his doctors and professors are highly impressed.

 

Sister Jane Booth of Red Cross Childrens Hospital paid a surprise visit to our home recently and gave us a "thumbs up"! We are now classified as Professional Home Care Specialists. Again, the new machine container imported for Hanno's ventilator will, with immediate effect, be issued to all children on life-support under Sister Jane Booth's care.

 

We are proud to be able to say that WE managed this!

 

As Hanno's mother, I will be assisting Sister Jane Booth this year with new life-support families in respect of home care and implementation of home care plans. Hanno will be actively participating in helping parents understand what this way of life entails for children on life-support.

 

Six years ago children on life-support remained in Red Cross Hospital and never saw their homes again. With Hanno's highly intelligent abilities guiding us, we are now able to fully understand and act on the needs of children dependant on life-support" 

 

 Almost three years on, after been giving merely two months to live, Hanno is not only defying the odds predicted for his survival, but making sure and steady progress...when Hanno isn't impressing those around him with his remarkable iPad skills, he's making the most of his constantly-advancing speech skills to express his delightful sense of humour.

Follow Hanno's story on the official  Hanno Fourie Website

Raising Awareness

There are very many reasons why people raise awareness for various causes, to name but a few :

• To inform/educate
• To raise funds for a particular cause
• To invite support

Often, for parents of a child/children with special needs, these Awareness Days run a little deeper as they also:

• Offer others a momentary insight into the challenges our children deal with
• Provide a united platform for the celebration of having overcome some of these challenges
• Prompt discussion which can result in new connections made with other parents

We look forward to sharing whatever information we have on hand as each Awareness Day comes around, beginning with the most current - World RTS Day (World Rubinstein-Taybi Syndrome Day) which took place recently on the 3rd of July...  

 

 

 



 RUBINSTEIN-TAYBI SYNDROME

Genetics

Rubinstein-Taybi Syndrome is a rare, congenital multisystem disorder which was first recorded in 1963 by Drs Jack Rubinstein and Hooshang Taybi, with there being at least 730 cases recorded in medical literature since then.  With exact statistics being unclear, it is estimated that around 1 in 300 000 to 1 in 720 000 people are affected by Rubinstein-Taybi Syndrome.

 

Rubinstein-Taybi Syndrome occurs when a random mutation takes place on the short arm of Chromosome 16, primarily causing genetic changes to one of the following two genes :

 

EP300 Gene

CREB Gene

 

Affected individuals with mutations/deletions affecting the CREB Gene (which is the Gene responsible for producing the Binding Protein) are at a higher risk for certain malignancies, e.g.  Nasopharyngeal Rhabdomyosarcoma, Neurilemoma, Leukemia, etc.

 

Neurological

Tethered Spinal Cord ; Spina Bifida Occulta ; Agenesis/Partial Agenesis of the Corpus Collosum; Low Muscle Tone ; Structural Abnormalities ; Seizures ; Moderate to severe intellectual disability

 

Muskuloskeletal

Angulated thumbs and/or big toes ; high risk for Scoliosis and Kyphosis, Craniofacial abnormalities ; delayed bone age ; short stature

 

Cardiology

A third of affected individuals have heart defects, with 65% of those having a single defect and the remainder two or multiple defects.

 

Gastroenterology

GERD ; chronic constipation due to poor muscle tone and a thickening of the bowel wall ; Eosinophilic Esophagitis

 

Genitourinary

Cryptorchidism (failure of one or both testes to descend into scrotum) - males ;  underdeveloped (hypoplastic) or absent kidney(s), repeated infections of the urinary tract, abnormal deposits of mineral salts in the kidneys (nephrolithiasis or kidney stones), unusual accumulation of urine in the kidney (hydronephrosis), and/or backflow (reflux) of urine into the tubes (ureters) that normally bring urine to the bladder. In some cases, duplication of the kidneys and/or ureters may also be present.

 

Opthalmology

Glaucoma ; Lacrimal Duct Obstruction ; Strabismus ; Nystagmus ; Myopia

 

Respiratory

Abnormalities of the respiratory system often result in breathing and swallowing difficulties ; soft/collapsible larynx wall ; sleep apnoea

 

Development

90% of all affected individuals experience speech delays and remain mostly non-verbal, however, have proven to be largely successful with alternate means of communication such as signing, AAC's, etc. Reaching milestones varies considerably as each individual seems to progress at their own unique pace but almost all require intervention therapy of some sort (speech/physio/occupational therapy)

 

Diagnosis

In South Africa, as in many countries, comprehensive genetic testing for RTS is not available with a Clinical Diagnosis forming the foundation upon which to make a diagnosis based on the characteristic physical features together with the related symptoms/conditions (not all individuals are affected by all of the symptoms/conditions and often not to the same degree either).

 

 

OUR RTS HERO - SAM

 

Follow Sam's blog at Sam The Conqueror



This is how WE celebrate World Rare Disease Day...

...with a fascinatingly informative group therapy session provided by the lovely ladies of Aucamp & Wilsdorf Physiotherapists. We were taught how to incorporate therapy into our everyday lives at home, using basic household items to double as the usual physiotherapy equipment, eg. a rolled up pillow and some string/ribbon proved just as effective a tool as the foam rollers we're used to. The added benefit of this, apart from the obvious being able to ensure a degree of therapy on a daily basis without the unmanageable costs, is being able to avoid the anxiety and resistance some children are prone to when heading off to therapy sessions as the homemade items, used in a comfortable and familiar environment, brings with it a degree of fun to the whole exercise.

A little background info on Physiotherapy and it's highly beneficial purpose :

"WHAT IS PHYSIOTHERAPY?"
Physiotherapy (PT) can be used to maximise a child’s ability to move and control pain in the joints, muscles and bones. It also helps to improve a child’s range of movement in order to promote health and well-being. Physiotherapy is non-invasive and does not involve the use of medication.Physiotherapists concentrate, in particular, on problems that affect muscles, bones, the heart, circulation and lungs.

"WHAT DOES A PHYSIOTHERAPIST DO?"
Physiotherapists are trained to evaluate and improve movement and function of the body, with particular attention to physical mobility, balance, posture, fatigue, and pain. The physical therapy program typically involves educating the child and/or parents about the physical problems caused by their disability, designing an individualised exercise program to address the problems, and enhancing mobility and energy conservation through the use of a variety of mobility aids and adaptive equipment.

"WHO DOES PHYSIOTHERAPY HELP?"
PT can help a variety of types of disorders including neurological, orthopaedic and paediatric.

Neurological: Physiotherapy can be used to help children who have a neurological condition that affects the nervous system, such as Multiple Sclerosis, stroke and Cerebral Palsy.

Orthopaedic: Physiotherapy can be used to treat conditions or injuries that affect the bones, joints and muscles, such as sports injuries and arthritis. It is often used to assist rehabilitation after orthopaedic surgery.

Paediatric: Physiotherapy can be used to treat children who have conditions which affect their muscles or skeleton. Some of these conditions such as Muscular Dystrophy may be present from birth. These and other conditions may require the child to have help to improve balance, strength and co-ordination. Physiotherapy may be recommended for conditions such as Dyspraxia and Cerebral Palsy.

"HOW DOES PHYSIOTHERAPY WORK?"
Physiotherapists usually take a holistic approach by looking at the child’s body as a whole rather than focusing on individual factors. Education is also an important part of physiotherapy because as well as aiming to improve a child’s  strength and mobility, physiotherapy also teaches them how to manage their condition more effectively.

"ARE THERE ANY PHYSIOTHERAPY TECHNIQUES?"
Physiotherapists use a range of techniques including massage and manipulation, exercise and movement, electrotherapy and hydrotherapy.

Massage and Manipulation: Massage and Manipulation involves manipulating the soft tissues of the body. Different types of massage are used to treat different conditions, for example, to improve circulation, to improve movement of different parts of the body, or to relieve pain and help relaxation.

Exercise and Movement: Physiotherapy often includes lots of different types of exercise and movement to help with particular problems. This may include gentle exercise, such as walking or swimming, or specific exercises to target certain areas of the body. Exercises are designed to strengthen the body and improve the person’s range of movement, and normally need to be repeated daily for a number of weeks.

Electrotherapy: Electrotherapy uses electrical impulses to stimulate a child’s nervous system. These impulses are thought to override pain messages and help promote the healing process. There are several different types of electrotherapy including ultrasound (using high frequency sound waves to stimulate blood circulation), laser therapy (using lasers to stimulate cell function in order to relieve pain) and shortwave diathermy (generating heat within the body’s tissue to strengthen the tissues and reduce pain).

Hydrotherapy: Hydrotherapy uses exercises sessions in heated water to improve mobility and relieve pain.